A RIKEN-led research group has uncovered a previously unreported locus or area of chromosome in which single nucleotide polymorphisms (SNPs) are highly associated with type 2 diabetes in populations of East Asian and European descent.
The finding could lead to a diagnostic test. And studies of the principal gene’s role in the development and progress of the disease could reveal useful target compounds for drugs to prevent or treat the condition.
Type 2 or adult onset diabetes affects more than 200 million people worldwide and that number is increasing. What makes people susceptible is not fully clear, but a combination of many genes and environmental factors is likely. Recent advances in the technology to find specific SNPs in an entire individual genome have made it possible to determine which SNPs or groups of SNPs are associated with particular diseases. Several studies involving type 2 diabetics in the US and Europe have already picked out at least 16 loci associated with their condition, but no one had investigated entire individual genomes of people of East Asian ancestry.
So researchers from RIKEN’s Center for Genomic Medicine in Yokohama and institutes in Japan, Denmark and Singapore compared SNPs of type 2 diabetics with those of non-diabetics in groups from those three countries. They report their findings in a letter to Nature Genetics1.
Initially the researchers conducted a genome-wide association study in Japan of more than 207,000 SNPs. Analyzing their results statistically, they selected the 8,323 SNPs most associated with the condition, and tested these further. Eventually they pared their original number of SNPs down to six from three loci. Two of those loci were known to be highly associated with type 2 diabetes from the earlier studies, but one, based around the gene KCNQ1, was new. When tested in populations of East Asian descent in Singapore and European descent in Denmark, it was highly associated with type 2 diabetes in them as well.
KCNQ1 encodes a protein involved in forming pores enabling potassium ions to move out of cells. Mutations in the gene are reported to cause significant problems in the heart, but also in the inner ear, stomach and several other organs.
“We now want to examine the role of KCNQ1 in type 2 diabetes using animal models or cell cultures,” says project leader Shiro Maeda. “And we wish to continue our studies to discover more susceptibility genes.”
1. Unoki, H., Takahashi, A., Kawaguchi, T., Hara, K., Horikoshi, M., Andersen, G., Ng, D.P.K., Holmkvist, J., Borch-Johnsen, K., Jørgensen, T., et al. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nature Genetics 40, 1098–1102 (2008).
The corresponding author for this highlight is based at the RIKEN Laboratory for Endocrinology and Metabolism
NTU scientists build new ultrasound device using 3-D printing technology
07.12.2016 | Nanyang Technological University
How to turn white fat brown
07.12.2016 | University of Pennsylvania School of Medicine
In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.
Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...
Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
07.12.2016 | Health and Medicine
07.12.2016 | Life Sciences
07.12.2016 | Health and Medicine